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The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the S... See more...
Aliases for RBFOX1 Gene
Aliases for RBFOX1 Gene
External Ids for RBFOX1 Gene
- HGNC: 18222
- Entrez Gene: 54715
- Ensembl: ENSG00000078328
- OMIM: 605104
- UniProtKB: Q9NWB1
Previous GeneCards Identifiers for RBFOX1 Gene
- GC16P006033
Summaries for RBFOX1 Gene
-
The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
GeneCards Summary for RBFOX1 Gene
RBFOX1 (RNA Binding Fox-1 Homolog 1) is a Protein Coding gene. Diseases associated with RBFOX1 include Benign Epilepsy With Centrotemporal Spikes and Spinocerebellar Ataxia 2. Among its related pathways are AKT Siganaling Pathway and MECP2 and Associated Rett Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is RBFOX2.
UniProtKB/Swiss-Prot Summary for RBFOX1 Gene
-
RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis.
Additional gene information for RBFOX1 Gene
- HGNC(18222)
- Entrez Gene(54715)
- Ensembl(ENSG00000078328)
- OMIM(605104)
- UniProtKB(Q9NWB1)
- Open Targets Platform(ENSG00000078328)
- Monarch Initiative
- Search for RBFOX1 at DataMed
- Search for RBFOX1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBFOX1 Gene
Genomics for RBFOX1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RBFOX1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH16J006019 | Promoter | 1 | EPDnew Ensembl | 600 | +779.9 | 779949 | 1.4 | POLR2A EZH2 RAD21 SIN3A CTCF | RBFOX1 ENSG00000280000 piR-56341-065 NONHSAG018484.2 | |
| GH16J005239 | Promoter | 0.8 | Ensembl | 600.7 | +0.3 | 349 | 1.4 | CTCF LARP7 ZNF143 REST TRIM22 RAD21 GATAD2B RNF2 ZBTB26 IKZF1 | NONHSAG018484.2 RBFOX1 piR-61945-170 | |
| GH16J005979 | Enhancer | 0.3 | Ensembl | 11.4 | +740.6 | 740649 | 1.2 | TCF7L2 BCL6 | RBFOX1 piR-56341-065 ENSG00000280000 NONHSAG018484.2 | |
| GH16J006231 | Enhancer | 0.2 | FANTOM5 | 12.3 | +991.9 | 991929 | 0.4 | RBFOX1 piR-31937-082 piR-50443-135 NONHSAG018484.2 | ||
| GH16J006043 | Enhancer | 0.2 | Ensembl | 11.9 | +804.0 | 804049 | 1.2 | RBFOX1 ENSG00000280000 ENSG00000257180 NONHSAG018484.2 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RBFOX1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBFOX1
Genomic Locations for RBFOX1 Gene
Genomic Locations for RBFOX1 Gene
- chr16:5,239,752-7,713,343
- (GRCh38/hg38)
- Size:
- 2,473,592 bases
- Orientation:
- Plus strand
- chr16:6,069,095-7,763,340
- (GRCh37/hg19)
- Size:
- 1,694,246 bases
- Orientation:
- Plus strand
Genomic View for RBFOX1 Gene
Genes around RBFOX1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p13.3 by HGNC
- 16p13.3 by Entrez Gene
- 16p13.3 by Ensembl
RBFOX1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RBFOX1 Gene
Proteins for RBFOX1 Gene
-
Protein details for RBFOX1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NWB1-RFOX1_HUMAN
- Recommended name:
- RNA binding protein fox-1 homolog 1
- Protein Accession:
- Q9NWB1
- Q7Z7I7
- Q8TAE3
- Q8TAF2
- Q8WYB2
- Q9NS20
Protein attributes for RBFOX1 Gene
- Size:
- 397 amino acids
- Molecular mass:
- 42784 Da
- Quaternary structure:
-
- Binds to the C-terminus of ATXN2.
- SequenceCaution:
-
- Sequence=AAF78291.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for RBFOX1 Gene
Post-translational modifications for RBFOX1 Gene
Other Protein References for RBFOX1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005255443.1
- XP_005255444.1
- XP_005255447.1
- XP_005255448.1
- XP_005255451.1
- XP_011520848.1
- XP_011520849.1
- XP_011520850.1
- XP_016878807.1
- XP_016878808.1
- XP_016878809.1
- XP_016878810.1
- XP_016878811.1
- XP_016878812.1
- XP_016878813.1
- XP_016878815.1
- XP_016878816.1
- XP_016878817.1
- XP_016878818.1
- XP_016878819.1
- XP_016878820.1
- XP_016878821.1
- XP_016878822.1
- XP_016878823.1
- XP_016878825.1
- XP_016878826.1
- XP_016878827.1
- XP_016878829.1
- XP_016878830.1
- XP_016878831.1
- XP_024306071.1
- XP_024306072.1
- XP_024306073.1
- XP_024306074.1
- XP_024306075.1
- XP_024306076.1
- XP_024306077.1
- XP_024306078.1
- XP_024306079.1
- XP_024306080.1
- XP_024306081.1
- XP_024306082.1
- XP_024306083.1
- XP_024306084.1
- NP_001135805.1
- NP_001135806.1
- NP_001295046.1
- NP_001351729.1
- NP_061193.2
- NP_665898.1
- NP_665899.1
- NP_665900.1
Antibody Products
- G Biosciences Immunotag™ FOX1 Antibody
- Creative Diagnostics Anti-RBFOX1 monoclonal antibody, clone 2H21
- Novus Biologicals Antibodies for RBFOX1
-
Abcam antibodies for RBFOX1
- Invitrogen Antibodies for RBFOX1 (AFLGC-Rbfox1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for RBFOX1
- Sino Biological Antibodies for RBFOX1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for RBFOX1
- Origene Custom Protein Services for RBFOX1
- antibodies-online: Show 9 available A2BP1 Proteins ranked by validation data
- Compare Top A2BP1 Proteins
-
Quality Products:
-
Signalway Proteins for RBFOX1
Assay Products
- antibodies-online: Show 5 available A2BP1 Elisa Kits ranked by validation data
- Compare Top A2BP1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for RBFOX1 Gene
Domains & Families for RBFOX1 Gene
Gene Families for RBFOX1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for RBFOX1 Gene
- InterPro:
- Blocks:
-
- RNA-binding region RNP-1 (RNA recognition motif)
- ProtoNet:
Suggested Antigen Peptide Sequences for RBFOX1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ59671, highly similar to Ataxin-2-binding protein 1 (B7Z1U7_HUMAN)
- A2BP1 protein (B7ZLH9_HUMAN)
- Hexaribonucleotide-binding protein 1 (RFOX1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RBFOX1 Gene
Function for RBFOX1 Gene
Molecular function for RBFOX1 Gene
- UniProtKB/Swiss-Prot Function:
- RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis.
Phenotypes From GWAS Catalog for RBFOX1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003723 | RNA binding | IEA,NAS | 10814712 |
| GO:0003729 | mRNA binding | IBA | 21873635 |
| GO:0003730 | mRNA 3'-UTR binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 16713569 |
Phenotypes for RBFOX1 Gene
- MGI mutant phenotypes for RBFOX1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for RBFOX1:
Animal Models for RBFOX1 Gene
- MGI Knock Outs for RBFOX1:
-
- Rbfox1 Rbfox1<tm1b(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RBFOX1 - Select products 50% OFF >
- * RBFOX1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RBFOX1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RBFOX1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RBFOX1
miRNA for RBFOX1 Gene
- miRTarBase miRNAs that target RBFOX1
-
- mmu-miR-9-5p (MIRT015352)
- hsa-miR-30a-5p (MIRT028610)
- hsa-let-7b-5p (MIRT032440)
- hsa-miR-3157-5p (MIRT654397)
- hsa-miR-153-5p (MIRT654399)
- hsa-miR-935 (MIRT654400)
- hsa-miR-4691-3p (MIRT654401)
- hsa-miR-1305 (MIRT666717)
- hsa-miR-6809-3p (MIRT666718)
- hsa-miR-6833-3p (MIRT666719)
- hsa-miR-4768-5p (MIRT666720)
- hsa-miR-498 (MIRT666721)
- hsa-miR-4753-3p (MIRT666722)
- hsa-miR-627-3p (MIRT666723)
- hsa-miR-6832-3p (MIRT666724)
- hsa-miR-562 (MIRT666725)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RBFOX1
- Browse OriGene Inhibitory RNA Products For RBFOX1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBFOX1
Clone Products
- Applied Biological Materials (abm): Clones for RBFOX1 - Select products 50% OFF >
- * RBFOX1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206201
- MG216555
- MR206201
- MR206201L3
- MR206201L4
- MR216555
- MR216555L3
- MR216555L4
- RC213933
- RC213933L3
- RC213933L4
- RC216967
- RC216967L1
- RC216967L2
- RC216967L3
- RC216967L4
- RC217020
- RC217020L1
- RC217020L2
- RC217020L3
- RC217020L4
- RC217960
- RC217960L1
- RC217960L2
- RC217960L3
- RC217960L4
- RC226569
- RC226569L1
- RC226569L2
- RC226569L3
- RC226569L4
- RC227923
- RC227923L1
- RC227923L2
- RC227923L3
- RC227923L4
- RG213933
- RG216967
- RG217020
- RG217960
- RG226569
- RG227923
- RR213164
- RR213164L3
- RR213164L4
- MR206201L3V
- MR206201L4V
- MR216555L3V
- MR216555L4V
- RC213933L3V
- RC213933L4V
- RC216967L1V
- RC216967L2V
- RC216967L3V
- RC216967L4V
- RC217020L1V
- RC217020L2V
- RC217020L3V
- RC217020L4V
- RC217960L1V
- RC217960L2V
- RC217960L3V
- RC217960L4V
- RC226569L1V
- RC226569L2V
- RC226569L3V
- RC226569L4V
- RC227923L1V
- RC227923L2V
- RC227923L3V
- RC227923L4V
- RR213164L3V
- RR213164L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RBFOX1
- Addgene plasmids for RBFOX1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RBFOX1
Cell Line Products
-
Horizon Cell Lines for RBFOX1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RBFOX1 Gene
Localization for RBFOX1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RBFOX1 Gene
- Nucleus. Cytoplasm.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| golgi apparatus | 5 |
| cytosol | 3 |
| lysosome | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
- Nucleoplasm (4)
- Cytosol (2)
- Golgi apparatus (2)
- Nucleoli fibrillar center (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IBA | 21873635 |
| GO:0005737 | cytoplasm | IBA,IDA | 10814712 |
| GO:0005802 | trans-Golgi network | IDA | 10814712 |
| GO:0010494 | cytoplasmic stress granule | IDA | 29358748 |
| GO:0097165 | nuclear stress granule | IDA | 29358748 |
Pathways & Interactions for RBFOX1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | AKT Siganaling Pathway | ||
| 2 | MECP2 and Associated Rett Syndrome | ||
Pathways by source for RBFOX1 Gene
1 Sino Biological pathway for RBFOX1 Gene
1 BioSystems pathway for RBFOX1 Gene
Interacting Proteins for RBFOX1 Gene
Selected Interacting proteins:
Q9NWB1-RFOX1_HUMAN
ENSP00000309117
for RBFOX1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for RBFOX1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | IBA | 21873635 |
| GO:0006397 | mRNA processing | IEA | -- |
| GO:0007399 | nervous system development | IBA | 21873635 |
| GO:0008380 | RNA splicing | IEA | -- |
| GO:0043484 | regulation of RNA splicing | IEA | -- |
No data available for SIGNOR curated interactions for RBFOX1 Gene
Drugs & Compounds for RBFOX1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| antineoplastic agents | Pharma | 0 |
Transcripts for RBFOX1 Gene
mRNA/cDNA for RBFOX1 Gene
- 8 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000311745 3268 nts (view in UCSC)
- ENST00000340209 4099 nts (view in UCSC)
- ENST00000355637 3321 nts (view in UCSC)
- ENST00000422070 1684 nts (view in UCSC)
- ENST00000436368 1530 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RBFOX1 - Select products 50% OFF >
- * RBFOX1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RBFOX1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RBFOX1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RBFOX1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RBFOX1
- Browse OriGene Inhibitory RNA Products For RBFOX1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBFOX1
Clone Products
- Applied Biological Materials (abm): Clones for RBFOX1 - Select products 50% OFF >
- * RBFOX1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206201
- MG216555
- MR206201
- MR206201L3
- MR206201L4
- MR216555
- MR216555L3
- MR216555L4
- RC213933
- RC213933L3
- RC213933L4
- RC216967
- RC216967L1
- RC216967L2
- RC216967L3
- RC216967L4
- RC217020
- RC217020L1
- RC217020L2
- RC217020L3
- RC217020L4
- RC217960
- RC217960L1
- RC217960L2
- RC217960L3
- RC217960L4
- RC226569
- RC226569L1
- RC226569L2
- RC226569L3
- RC226569L4
- RC227923
- RC227923L1
- RC227923L2
- RC227923L3
- RC227923L4
- RG213933
- RG216967
- RG217020
- RG217960
- RG226569
- RG227923
- RR213164
- RR213164L3
- RR213164L4
- MR206201L3V
- MR206201L4V
- MR216555L3V
- MR216555L4V
- RC213933L3V
- RC213933L4V
- RC216967L1V
- RC216967L2V
- RC216967L3V
- RC216967L4V
- RC217020L1V
- RC217020L2V
- RC217020L3V
- RC217020L4V
- RC217960L1V
- RC217960L2V
- RC217960L3V
- RC217960L4V
- RC226569L1V
- RC226569L2V
- RC226569L3V
- RC226569L4V
- RC227923L1V
- RC227923L2V
- RC227923L3V
- RC227923L4V
- RR213164L3V
- RR213164L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RBFOX1
- Addgene plasmids for RBFOX1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RBFOX1
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | · | 15c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||
| SP7: | - | - | - |
Relevant External Links for RBFOX1 Gene
- GeneLoc Exon Structure for
- RBFOX1
Expression for RBFOX1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
- Hypothalamus
- Medulla Oblongata
- Cerebral Cortex
- Neural Tube (Nervous System)
-
Eye (Sensory Organs)
- GABAergic Amacrine Cells Inner Nuclear Layer
- Retina
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
- Epiblast (Early Embryonic Tissues)
-
Neurons
- GABAergic Amacrine Cells Inner Nuclear Layer
mRNA differential expression in normal tissues according to GTEx for RBFOX1 Gene
This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.5), Muscle - Skeletal (x5.5), Brain - Nucleus accumbens (basal ganglia) (x5.2), Brain - Putamen (basal ganglia) (x5.2), Brain - Caudate (basal ganglia) (x4.6), Brain - Cortex (x4.4), and Brain - Anterior cingulate cortex (BA24) (x4.4).
This gene is overexpressed in Bone (43.0), Heart (15.8), and Fetal Brain (8.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RBFOX1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBFOX1
SOURCE GeneReport for Unigene cluster for RBFOX1 Gene:
Hs.459842mRNA Expression by UniProt/SwissProt for RBFOX1 Gene:
Q9NWB1-RFOX1_HUMAN
Tissue specificity:
Predominantly expressed in muscle and brain.
Evidence on tissue expression from TISSUES for RBFOX1 Gene
- Nervous system(4.6)
- Muscle(3)
- Heart(2.7)
- Pancreas(2.1)
- Thyroid gland(2)
Primer Products
-
OriGene qPCR primer pairs for RBFOX1
-
OriGene qPCR primer pairs and template standards for RBFOX1
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RBFOX1 Gene
Orthologs for RBFOX1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Dog (Canis familiaris) |
Mammalia | RBFOX1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Rbfox1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rbfox1 30 |
|
||
| Chimpanzee (Pan troglodytes) |
Mammalia | RBFOX1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | RBFOX1 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RBFOX1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RBFOX1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | RBFOX1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RBFOX1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rbfox1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | rbfox1 30 31 |
|
OneToOne | |
| Dr.11261 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | A2bp1 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | fox-1 31 |
|
ManyToMany | |
| asd-1 31 |
|
ManyToMany | |||
| spn-4 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3750 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1728 30 |
|
- Species where no ortholog for RBFOX1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for RBFOX1 Gene
- ENSEMBL:
- Gene Tree for RBFOX1 (if available)
- TreeFam:
- Gene Tree for RBFOX1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RBFOX1: view image
Paralogs for RBFOX1 Gene
(10) SIMAP similar genes for RBFOX1 Gene using alignment to 10 proteins:
- RFOX1_HUMAN
- B7Z1U7_HUMAN
- F5H0M1_HUMAN
- F8VR27_HUMAN
- F8VRS4_HUMAN
- F8VZG9_HUMAN
- F8VZY7_HUMAN
- H3BM62_HUMAN
- I3L1D4_HUMAN
- J3KNW3_HUMAN
Variants for RBFOX1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RBFOX1 Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 640496 | Uncertain Significance: Idiopathic generalized epilepsy | 7,518,277(+) | C/G | MISSENSE_VARIANT | |
| 642973 | Uncertain Significance: Idiopathic generalized epilepsy | 7,653,928(+) | C/G | MISSENSE_VARIANT | |
| 648111 | Uncertain Significance: Idiopathic generalized epilepsy | 7,676,822(+) | G/A | MISSENSE_VARIANT | |
| 649097 | Uncertain Significance: Idiopathic generalized epilepsy | 7,518,244(+) | C/G | MISSENSE_VARIANT | |
| 649949 | Uncertain Significance: Idiopathic generalized epilepsy | 7,676,771(+) | T/C | INTRON_VARIANT |
Residual Variation Intolerance Score:
5.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.64;
31.51% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RBFOX1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBFOX1 Gene
Disorders for RBFOX1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| benign epilepsy with centrotemporal spikes |
|
|
| spinocerebellar ataxia 2 |
|
|
| developmental coordination disorder |
|
|
| wheat allergy |
|
|
| atrial septal defect 1 |
|
|
Search RBFOX1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RBFOX1
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for RBFOX1 Gene
Publications for RBFOX1 Gene
- A novel protein with RNA-binding motifs interacts with ataxin-2. (PMID: 10814712) Shibata H … Pulst SM (Human molecular genetics 2000) 2 3 4 23
- Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1. (PMID: 22001756) Khor CC … Simmons CP (Nature genetics 2011) 3 41
- A2BP1 as a novel susceptible gene for primary biliary cirrhosis in Japanese patients. (PMID: 20153395) Joshita S … Shinshu PBC Study Group (Human immunology 2010) 3 23
- Genomewide association study of movement-related adverse antipsychotic effects. (PMID: 19875103) Aberg K … van den Oord EJ (Biological psychiatry 2010) 3 41
- A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium. (PMID: 19508968) Zhai G … Spector TD (Journal of medical genetics 2009) 3 23
ExternalLinks
Products for RBFOX1 Gene
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- MG206201
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RBFOX1
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- Signalway Proteins for RBFOX1
Sources for RBFOX1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB